Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221607_7221608del , CM000679.2:g.7221607_7221608del	GRCh38
NC_000017.10:g.7124926_7124927del , CM000679.1:g.7124926_7124927del	GRCh37
NC_000017.9:g.7065650_7065651del	NCBI36
NG_007975.1:g.6774_6775del
NG_008391.2:g.3445_3446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.547_548del MANE Select	ENSP00000349297.5:p.Ser183HisfsTer?
ENST00000322910.9:c.502_503del	ENSP00000325395.5:n.502_503del
ENST00000350303.9:c.481_482del	ENSP00000344152.5:p.Ser161HisfsTer?
ENST00000356839.9:c.547_548del	ENSP00000349297.5:p.Ser183HisfsTer?
ENST00000543245.6:c.616_617del	ENSP00000438689.2:p.Ser206HisfsTer?
ENST00000577191.5:n.624_625del
ENST00000577433.5:n.755_756del
ENST00000577857.5:n.363_364del
ENST00000579286.5:n.728_729del
ENST00000579886.2:c.385_386del	ENSP00000463246.1:p.Ser129HisfsTer?
ENST00000580365.1:n.278_279del
ENST00000581378.5:c.265_266del
ENST00000581562.5:n.525-345_525-344del
ENST00000582166.1:n.528_529del
ENST00000583312.5:c.547_548del	ENSP00000467920.1:p.Ser183HisfsTer?
ENST00000583760.1:n.329_330del
NM_000018.3:c.547_548del	NP_000009.1:p.Ser183HisfsTer?
NM_001033859.2:c.481_482del	NP_001029031.1:p.Ser161HisfsTer?
NM_001270447.1:c.616_617del	NP_001257376.1:p.Ser206HisfsTer?
NM_001270448.1:c.319_320del	NP_001257377.1:p.Ser107HisfsTer?
XM_006721516.2:c.547_548del	XP_006721579.2:p.Ser183HisfsTer?
XM_011523829.1:c.547_548del	XP_011522131.1:p.Ser183HisfsTer?
XM_011523830.1:c.547_548del	XP_011522132.1:p.Ser183HisfsTer?
XR_934021.1:n.654_655del
XR_934022.1:n.654_655del
XR_934023.1:n.654_655del
XM_006721516.3:c.547_548del	XP_006721579.2:p.Ser183HisfsTer?
XM_011523829.2:c.547_548del	XP_011522131.1:p.Ser183HisfsTer?
XM_011523830.2:c.547_548del	XP_011522132.1:p.Ser183HisfsTer?
XM_024450741.1:c.547_548del	XP_024306509.1:p.Ser183HisfsTer?
XR_934021.2:n.606_607del
XR_934022.2:n.606_607del
XR_934023.2:n.606_607del
NM_000018.4:c.547_548del MANE Select	NP_000009.1:p.Ser183HisfsTer?
NM_001033859.3:c.481_482del	NP_001029031.1:p.Ser161HisfsTer?
NM_001270447.2:c.616_617del	NP_001257376.1:p.Ser206HisfsTer?
NM_001270448.2:c.319_320del	NP_001257377.1:p.Ser107HisfsTer?